A SURPRISE PREGNANCY AND A TOUGH DELIVERY -- BUT WORTH IT

When Monica German of Sioux Falls, S.D., got married in April 1983, she knew she had limb-girdle muscular dystrophy. A pregnancy might be difficult, she thought, and she knew she had a chance of passing on a genetic disease to her child. (At that time, there was no genetic testing for muscular dystrophy.) "We thought we'd see how the muscular dystrophy was and decide whether to have our own children or to adopt," says German, now 38. But, she says, "we got a surprise. In November, we found out I was pregnant."

German's son, Christopher, is now a strapping 13-year-old and shows no signs of muscular dystrophy. His parents haven't had him tested, however, preferring that he make that decision when he's a little older.

"There was no doubt that I would have the baby," German says of her 1983 decision. "I'm totally against abortion." Fortunately, the pregnancy went well, she says, but "delivery was tough." Labor had to be induced with the drug Pitocin and, even then, the contractions weren't really strong enough. When it came time to push the baby out, German just didn't have the strength. The baby's heart rate dropped twice (a sign of fetal distress) and, she says, "they almost had to do a Caesarean. Toward the end it was just extremely difficult to push. I was just wiped anyway, because it was 13 hours. Once they start the Pitocin it usually takes 10 hours, and it took more than that."

With a nurse on one side and her husband on the other, German was coaxed through the delivery, but the doctor had to use forceps, and she lost a lot of blood. "They replaced four pints," she says.

German says it was "definitely worth having Chris. There's never been a doubt about that. He's terrific." But, she says, "I was weaker after I had him than I was before."

Would she advise a woman with the same disorder to become pregnant? "Yes, it's worth it," German says. "But if she's not already pregnant, I would definitely have the genetic testing done to find out if the father is a carrier. [In most forms of limb-girdle, both parents have to be carriers for the child to show the disease.] They couldn't do that when John and I had Chris. Then, eat right and get as much exercise as you can. At that time, since I was teaching, I walked quite a bit, so that was really good. So much of it depends on the stage of the disease. If I was to be pregnant right now, it would be extremely hard." German has used a wheelchair, at least when she goes out, for about three years.

Then, she advises, be very consistent in your child rearing techniques to conserve your strength after the birth. Her son was "born on a four-hour [feeding] schedule," she says, but if he hadn't been, "we would have put him on one."

A TIRED MOM PACES HERSELF AFTER SURPRISE DIAGNOSIS

InaSue Shapiro of Chandler, Ariz., has a different story to tell. She didn't know she had any special problems until she was pregnant with her second child, Courtney, born in 1994. "I woke up a couple of times with my eyes blurred, and I couldn't get my vision back for two or three minutes," says Shapiro, a 38-year-old special education teacher. "I thought, 'That could happen when you're pregnant.' One of my girlfriends had a terrible time with her eyes."

But there were other warning signs. "One thing was my wrist hurt when I turned the key in the ignition. And I was really tired. I thought, 'I'm almost 36,' but these could have been subtle hints."

Shapiro had a Caesarean delivery with her second baby, because her first labor had been complicated and had required a Caesarean. (Depending on the circumstances, obstetricians sometimes recommend repeat Caesareans for subsequent deliveries.)

The delivery went fine -- "no problem whatsoever" -- but strange symptoms returned Thanksgiving weekend when Courtney was 3 months old. "I had all my energy back," Shapiro recalls, "and we went to Tucson. I had blurry vision, and the next day I had double vision. I had gotten new glasses, so I wasn't sure if maybe they had put the lenses in wrong. Then, the next day, I had double vision again, and five days later, I had drooping of the left upper lid. So what I ended up doing, of course, was going back to my ophthalmologist."

Shapiro's vision problems worsened. Some days, she couldn't look up or to the side at all. Several trips to the ophthalmologist, referrals to two neurologists, and tests to look for a stroke, an aneurysm and diabetes shed little light on the problem over the next few months. "Everything was borderline," Shapiro says. "All my test results were borderline. My extremity strength was normal, and all my sensations and all that stuff was normal."

About four months into the diagnostic process, Shapiro was referred to the MDA clinic in Tucson and her myasthenia gravis was diagnosed. She started taking medication, but the muscle weakness spread from her eyes to other parts of her body. With two small children and a teaching job, life became very hard.

"My legs and my arms had been affected," Shapiro says. "When I got home, they just ached. It's like running too long, like too much acid in your legs, so I had to make sure I put them up. But it was bothering me. And my arms. I couldn't open jars, was dropping things. When I was drying my hair, that was difficult." On the job, she says, "I can't imagine how I was working. I was reading with kids, with double vision. It's amazing how your body can compensate."

Shapiro has an autoimmune disorder, in which immune-system proteins known as antibodies build up and prevent normal transmission of signals between nerves and muscles. The disorder can definitely worsen or improve in response to hormonal changes. Myasthenia gravis often starts during pregnancy, as it did in Shapiro's case, when hormonal levels are changing rapidly.

Shapiro has noticed that her strength fluctuates with her menstrual cycle. "My medicine does not work as well when I have my period," she says. "That's why it's worse for a woman. You've got the hormone thing all the time."

Pacing yourself to conserve energy is the key to Shapiro's management of her work and family life. That, she says, and "being married to a man like my husband," David, who does almost all the cooking and "basically does the cleaning," although they have a cleaning person, too.

When 2-year-old Courtney insisted on being carried all the time, Shapiro made a rule that she couldn't pick her up unless she was standing on a chair or stool. Shapiro also insists on having her own weary legs up on a stool for a time after coming home from work and during dinner.

Left to right: Monica German with Christopher, age 3 months. InaSue Shapiro with Courtney, age 3 months. German has limb-girdle muscular dystrophy, and Shapiro has myasthenia gravis.

"I think the hardest thing about this disease is not knowing how far it's going. You don't know." The disorder itself is unpredictable, and the side effects of medications, especially prednisone, make mood swings an added complication, Shapiro says. Courtney and even her older child, Rachel, can't always understand that "some days, I just don't have any energy."

Advice to others about pregnancy and motherhood? Have a supportive husband, hire help if possible, get a lot of rest, take vitamins, and be choosy about which energy-requiring tasks are really important, Shapiro says. "Listen to your body, and know when you have done enough for the day. Live day to day, knowing that you may have to change your plans depending on how you feel."

A SPECIAL DIET, AN ENGLISH PRAM, A MOBILE PHONE -- SO FAR SHE'S FINE

I started going to the obstetrician as soon as I was pregnant," says Brenda Freepons of Prosser, Wash. "I never had a problem at all. The ultrasound, though, right before Peter was born, showed, he thought, an 8-pound baby. It turned out he was 11 pounds, 7 ounces. The nurses were stunned, with their mouths open."

What caused Peter's huge size was Freepons' gestational diabetes, probably related to the high incidence of elevated blood sugar and diabetes in people with Friedreich's ataxia, the disorder Freepons has. "When I was pregnant with Sarah [her second child], they kept a close watch on that," says Freepons, now 36 and running a home-based bookkeeping and payroll business.

"It was hard," she says of the diabetic diet prescribed for the second pregnancy, "because there were all the Fourth of July picnics, the summer things. And you can't have the sugar, the cake, the cookies and all the snacks. You're limited in fat. You're limited in some vegetables, like peas and corn, the starch. It was a lot of learning. But we base our diet on all this stuff now."

After the babies were born, there were some problems taking care of them. "When Peter was born, I was still walking," Freepons says. "But I couldn't carry him, so we got an English pram. It was really tall and had the real big, bicycle-like wheels. It was real easy; I could walk behind it and push it. And that way I could get him around the house. I'd lift him from the crib, put him in there, and then go around the house that way."

But by the time Sarah was born, Freepons was using a wheelchair. "We used the pram a lot, but it was harder to push," she says. "Mostly, I had her on the couch, and I had one of those folding gate things so they don't roll off the bed.

"With Peter, I had wanted something high to put the baby in. But now I wanted something low. I had a little thing, it was a little sling, a pouch that you put your baby in to carry it on your hip or on your stomach. I used that just to carry her on my lap, because when I used the wheelchair, I couldn't use my hands much."

Peter is now 10 and Sarah 6. So far, neither shows signs of Friedreich's ataxia, which runs in Freepons' family but would require a second flawed gene from the father for the disorder to show itself in the children. Freepons and her husband, Phil, haven't had the children tested, figuring they'll let them decide for themselves when they're older.

Freepons has no regrets, but she does think life can be inconvenient. She doesn't get little buttons for the children's clothes because her fingers can't work them. Her balance is poor, and she finds her coordination is no longer good enough for driving a car.

"I gave up driving," she says. "That's one of the things that makes me the most frustrated. When the kids are sick and they call me at school, I've got to find an aunt or a grandma or someone who will go pick them up. Everyone else's parents can take them to football practice or the library. Phil [a farmer] has a mobile phone, so I can reach him sometimes. But if he's on a tractor I can't get hold of him."

So far, though, "we've been able to do everything fine."

MOM'S A NURSE BUT HAS TO LEARN WHAT SHE TEACHES PATIENTS

Girls don't get muscular dystrophy," Ranae Beeker was told as a young woman when she consulted a doctor about her curved spine and shoulder blades that stuck out. She had a muscle biopsy and got a diagnosis -- polymyositis, a non-genetic, inflammatory muscle condition -- that would eventually be overturned. Meanwhile, she had a future to plan.

Thinking she didn't have a genetic disease, Beeker and her husband went ahead with their first pregnancy. Beeker, now 39 and a nurse at Hanover Hospital in Pennsylvania, gave birth to a daughter in 1984, after an arduous 18-hour labor that ended with a Caesarean delivery. (In 2006, the daughter requested that her name be removed from this article.)

Left to right: Brenda Freepons with Peter, age 3 months. Ranae Beeker, pregnant with Gavin, with her daughter, age 3. Freepons has Friedreich's ataxia, and Beeker has facioscapulohumeral muscular dystrophy.

Two years later, in 1986, she and her husband, David, had moved from Mississippi, where he had been stationed in the military, to Hanover, Pa., and they were talking about another baby. Thinking she might need surgery to remove an extra rib one doctor thought accounted for some of her problems, she traveled to Johns Hopkins University Medical Center in Baltimore. There, however, she ended up at the MDA clinic, where she had a diagnostic workup and was told in October she had facioscapulohumeral muscular dystrophy (FSHD), a dominant genetic disorder.

"I burst into tears," says Beeker, who was thinking about her children, born and unborn. Uncertain about the second baby now, she talked to people and went back to her books. "I talked to my minister, my husband. I prayed," she says. "I was a nurse by then, and I knew the potential for muscular dystrophy. But the literature said the disability would be minimal. We decided to have the second kid."

The decision wasn't easy, and neither was the pregnancy. "My abdominal muscles were shot, and I carried very low." She told her obstetrician she had muscular dystrophy and asked him whether there would be a problem with the delivery. "I'll ask somebody," the doctor told her, but Beeker was unconvinced. When she repeated the question later, the obstetrician brushed her off, saying, "If you can have a bowel movement, you can have a baby," a statement that proved woefully untrue.

"To make a long story short, I could not push that child out," Beeker says. "The doctor kept saying, 'Push!' I kept saying, 'I am pushing!'" After a failed attempt to augment her efforts with mechanical suction and with the baby in distress, the doctor extracted Beeker's second child with obstetrical forceps, without anesthesia. Beeker was thankful Gavin survived but angry with herself for not insisting on better communication between her obstetrician and neurologist. "I wish that the obstetrician had listened to me. And I wish that I had been more forceful myself," she says.

Her daughter, now 13, has signs of FSHD, and Gavin, 10, may also have the disorder. "She has obvious symptoms of the disease," Beeker says. "Gavin may have it as well but, as far as the mother side of me, he doesn't have it. The nurse side of me says it's a possibility. He has no obvious symptoms."

Beeker's own condition has worsened over the years, and she's had to switch from working in ambulatory surgery to a desk job doing pre-admissions interviews and pre- and postoperative patient teaching. She has trouble using her right arm, although she's right-handed, and she's had surgery to fuse her shoulder blades to her ribs. "I waddle," she says of her gait. "Just like I'm pregnant." So far, she hasn't needed to use a wheelchair.

Be adaptive and flexible is Beeker's advice to the would-be mother with a neuromuscular disorder. "Being open-minded or adaptive were the hardest things. I think that was the hardest thing for me to get through my thick skull," she says. "My nursing side, with my patients, I encourage them to be adaptive. But with me, I never had to do that before. So I wanted to be able to do everything I had been doing. I didn't want to give up anything, and it just got to the point where I didn't have the energy or the ability, so I had to adapt. I gave up a lot of extracurricular activities and a lot of things that I like to do, so that I could just get through the day. Just get in the shower, get dressed, and come to work. Adaptation is very important."

Beeker says she would encourage any woman with a genetic disorder to get genetic counseling. "There's no excuse [not to] if it's available," she says. "Just being prepared and knowing that you have researched and you know what the chances are, what the odds are. For some of the disorders there is testing now. Prenatal testing. So, I think if you are well equipped with knowledge and you know what the potentials are, then you have to think, what is the potential quality of life for the child? What are the potential problems for them throughout their lives?"